Product Details

SNP ID
rs149307240
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.14:21392628 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCCATGGAAGCTGCACTACTACTT[C/T]GTGGTGTGGGGACTGGAGAGTCACC
Phenotype
MIM: 610528 MIM: 605012
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
CHD8 PubMed Links

Gene Details

Gene
CHD8
Gene Name
chromodomain helicase DNA binding protein 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001170629.1 5960 Missense Mutation CAA,CGA Q2217R NP_001164100.1
NM_020920.3 5960 Missense Mutation CAA,CGA Q1938R NP_065971.2
Gene
SNORD8
Gene Name
small nucleolar RNA, C/D box 8
There are no transcripts associated with this gene.

Gene
SNORD9
Gene Name
small nucleolar RNA, C/D box 9
There are no transcripts associated with this gene.

Gene
SUPT16H
Gene Name
SPT16 homolog, facilitates chromatin remodeling subunit
There are no transcripts associated with this gene.

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